ClinVar Miner

List of variants reported as benign for acute hepatic porphyria by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995
NM_000140.4(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.4(FECH):c.921A>G (p.Pro307=) rs536560
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.88-14G>A rs17075

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